X-linked osteogenesis imperfecta accompanied by patent ductus arteriosus: a case with a novel splice variant in PLS3

Osteogenesis imperfecta(OI),also known as brittle bone disease,is characterized by low bone mass and bone fragil-ity,which varies in severity from asymptomatic to perina-tal lethality[1].Most patients with OI experience recur-rent bone fractures with or without short stature,facial dysmorphism,and skeletal deformities.The accompany-ing extraskeletal manifestations include blue sclerae,joint laxity,dentinogenesis imperfecta,and hearing impairment.Approximately 85-90％of patients with OI have mutations in either COL1A1 or COL1A2,which elicit defects in type Ⅰcollagen.Recently,an X-linked subtype of OI that is unre-lated to collagen was identified and was attributed to muta-tions in the plastin 3 gene(PLS3)[2].